Variant report

Variant	nsv1055454
Chromosome Location	chr16:82964787-82984576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82978751..82980974-chr16:83004858..83007215,2	K562	blood:
2	chr16:82974835..82978112-chr16:82980559..82984305,4	K562	blood:
3	chr16:82974835..82978112-chr16:82980559..82984305,4	K562	blood:

Extended variants
information (count: 1101 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564866822	chr16:82964795-82964796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145719197	chr16:82964797-82964798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373296010	chr16:82964815-82964816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560940291	chr16:82964824-82964825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529770840	chr16:82964834-82964835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561990751	chr16:82964855-82964856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549909880	chr16:82964856-82964857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564085224	chr16:82964858-82964859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186935800	chr16:82964898-82964899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140472812	chr16:82964900-82964901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552091985	chr16:82964963-82964964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565719125	chr16:82964975-82964976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562855217	chr16:82964977-82964978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534721827	chr16:82964987-82964988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57188117	chr16:82965064-82965065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7499431	chr16:82965065-82965066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs12923512	chr16:82965082-82965083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12921831	chr16:82965091-82965092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565823742	chr16:82965118-82965119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568506911	chr16:82965119-82965120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397949542	chr16:82965132-82965133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146765458	chr16:82965156-82965157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190876096	chr16:82965199-82965200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577406368	chr16:82965252-82965253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540123702	chr16:82965278-82965279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527968824	chr16:82965279-82965280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553731643	chr16:82965288-82965289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573602831	chr16:82965297-82965298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540996118	chr16:82965298-82965299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7499434	chr16:82965304-82965305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574429766	chr16:82965320-82965321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183384453	chr16:82965332-82965333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186591855	chr16:82965353-82965354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9319580	chr16:82965354-82965355	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs545668278	chr16:82965356-82965357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140403189	chr16:82965384-82965385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528385614	chr16:82965403-82965404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548136384	chr16:82965407-82965408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116713916	chr16:82965410-82965411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191137923	chr16:82965418-82965419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550830585	chr16:82965425-82965426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12447832	chr16:82965440-82965441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs35521190	chr16:82965448-82965449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12445060	chr16:82965449-82965450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567131922	chr16:82965484-82965485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12445083	chr16:82965520-82965521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs79599801	chr16:82965523-82965524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143573173	chr16:82965543-82965544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574388459	chr16:82965586-82965587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182645899	chr16:82965591-82965592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Adrenocortical carcinoma	18281524	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82934000-83003400	Weak transcription	NHEK	skin
2	chr16:82934400-82967000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:82934400-82967400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:82934600-82989600	Weak transcription	HSMMtube	muscle
5	chr16:82958400-82966000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:82959200-82977400	Weak transcription	Left Ventricle	heart
7	chr16:82959200-82977600	Weak transcription	Right Atrium	heart
8	chr16:82959400-82977400	Weak transcription	Right Ventricle	heart
9	chr16:82962000-82970200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:82962600-82970200	Weak transcription	HSMM	muscle
11	chr16:82966000-82968400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:82967000-82968000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:82967200-82969000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
14	chr16:82967200-82970000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:82967400-82967600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr16:82967400-82968000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:82967400-82968000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:82967400-82972400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:82967600-82968000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:82967800-82968000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr16:82967800-82968000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr16:82967800-82969600	Weak transcription	HUVEC	blood vessel
23	chr16:82968000-82970000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:82968000-82970200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:82968000-82970200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:82968000-82970400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:82968000-82971000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:82968800-82971200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr16:82969000-82972000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr16:82969200-82969400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:82969200-82969600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:82969200-82970600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr16:82969600-82972000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:82969600-82972800	Enhancers	HUVEC	blood vessel
35	chr16:82970000-82970200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:82970000-82970600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:82970000-82970600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr16:82970200-82970600	Enhancers	NH-A	brain
39	chr16:82970200-82970800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:82970200-82970800	Enhancers	HSMM	muscle
41	chr16:82970200-82971200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:82970200-82971200	Enhancers	Fetal Muscle Leg	muscle
43	chr16:82970200-82971400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:82970200-82972600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr16:82970200-82972600	Enhancers	HMEC	breast
46	chr16:82970400-82970600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr16:82970400-82970800	Enhancers	NHLF	lung
48	chr16:82970400-82971000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:82970400-82971200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr16:82970400-82971200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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